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Items: 1 to 20 of 37

1.

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.

Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y.

Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16.

2.

Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome.

Gebert N, Joshi AS, Kutik S, Becker T, McKenzie M, Guan XL, Mooga VP, Stroud DA, Kulkarni G, Wenk MR, Rehling P, Meisinger C, Ryan MT, Wiedemann N, Greenberg ML, Pfanner N.

Curr Biol. 2009 Dec 29;19(24):2133-9. doi: 10.1016/j.cub.2009.10.074. Epub 2009 Dec 3.

3.

Mitochondrial bioenergetic deficit precedes Alzheimer's pathology in female mouse model of Alzheimer's disease.

Yao J, Irwin RW, Zhao L, Nilsen J, Hamilton RT, Brinton RD.

Proc Natl Acad Sci U S A. 2009 Aug 25;106(34):14670-5. doi: 10.1073/pnas.0903563106. Epub 2009 Aug 10.

4.

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P.

Hum Mutat. 2009 Jul;30(7):E692-705. doi: 10.1002/humu.21025.

PMID:
19319978
5.

Costeff optic atrophy syndrome: new clinical case and novel molecular findings.

Ho G, Walter JH, Christodoulou J.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S419-23. doi: 10.1007/s10545-008-0981-z. Epub 2008 Nov 7. Review.

PMID:
18985435
6.

Using retroviruses as a mutagenesis tool to explore the zebrafish genome.

Jao LE, Maddison L, Chen W, Burgess SM.

Brief Funct Genomic Proteomic. 2008 Nov;7(6):427-43. doi: 10.1093/bfgp/eln038. Epub 2008 Oct 31. Review.

7.

A missense mutation in the murine Opa3 gene models human Costeff syndrome.

Davies VJ, Powell KA, White KE, Yip W, Hogan V, Hollins AJ, Davies JR, Piechota M, Brownstein DG, Moat SJ, Nichols PP, Wride MA, Boulton ME, Votruba M.

Brain. 2008 Feb;131(Pt 2):368-80. doi: 10.1093/brain/awm333.

8.

Modulation of locomotor activity in larval zebrafish during light adaptation.

Burgess HA, Granato M.

J Exp Biol. 2007 Jul;210(Pt 14):2526-39.

9.

Multiparameter metabolic analysis reveals a close link between attenuated mitochondrial bioenergetic function and enhanced glycolysis dependency in human tumor cells.

Wu M, Neilson A, Swift AL, Moran R, Tamagnine J, Parslow D, Armistead S, Lemire K, Orrell J, Teich J, Chomicz S, Ferrick DA.

Am J Physiol Cell Physiol. 2007 Jan;292(1):C125-36. Epub 2006 Sep 13.

10.

Methods for reverse genetic screening in zebrafish by resequencing and TILLING.

Sood R, English MA, Jones M, Mullikin J, Wang DM, Anderson M, Wu D, Chandrasekharappa SC, Yu J, Zhang J, Paul Liu P.

Methods. 2006 Jul;39(3):220-7.

PMID:
16828311
11.

A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function.

Khuchua Z, Yue Z, Batts L, Strauss AW.

Circ Res. 2006 Jul 21;99(2):201-8. Epub 2006 Jun 22.

12.

Optic atrophies in metabolic disorders.

Huizing M, Brooks BP, Anikster Y.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):51-60. Epub 2005 Sep 27. Review.

PMID:
16194617
13.

3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.

Gunay-Aygun M.

Mol Genet Metab. 2005 Jan;84(1):1-3. Review. No abstract available.

PMID:
15719488
14.

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.

Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthièry Y, Lenaers G, Bonneau D.

J Med Genet. 2004 Sep;41(9):e110. No abstract available.

15.

Germ cell migration in zebrafish is dependent on HMGCoA reductase activity and prenylation.

Thorpe JL, Doitsidou M, Ho SY, Raz E, Farber SA.

Dev Cell. 2004 Feb;6(2):295-302.

16.

Proteomic analysis of the mouse liver mitochondrial inner membrane.

Da Cruz S, Xenarios I, Langridge J, Vilbois F, Parone PA, Martinou JC.

J Biol Chem. 2003 Oct 17;278(42):41566-71. Epub 2003 Jul 15.

17.

3-Methylglutaconic aciduria type I is caused by mutations in AUH.

IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ.

Am J Hum Genet. 2002 Dec;71(6):1463-6. Epub 2002 Nov 14. Erratum in: Am J Hum Genet. 2003 Sep;73(3):709.

18.

Statin-associated myopathy with normal creatine kinase levels.

Phillips PS, Haas RH, Bannykh S, Hathaway S, Gray NL, Kimura BJ, Vladutiu GD, England JD; Scripps Mercy Clinical Research Center.

Ann Intern Med. 2002 Oct 1;137(7):581-5.

PMID:
12353945
19.

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y.

Mol Genet Metab. 2002 Jul;76(3):201-6.

PMID:
12126933
20.

A convenient one-step extraction of cellular ATP using boiling water for the luciferin-luciferase assay of ATP.

Yang NC, Ho WM, Chen YH, Hu ML.

Anal Biochem. 2002 Jul 15;306(2):323-7.

PMID:
12123672
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